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患者,男,25岁,未婚,自幼身材矮小。发育差,皮肤黑,嗜好咸食,且常诉头晕乏力来院诊治。查体:T36.5℃,P80次/min,BP96/64mmHg,身高140cm,体重45kg。双手、足(指)趾短小。全身皮肤黑,尤以耳廓,口唇、颈、腋、腰带处及臀后、肛门周围更为显著。舌边两侧、牙龈、口腔粘膜亦呈黑色。头颅正常,头发稀疏无光泽,眉毛,腋毛,阴毛均稀少。巩膜无黄染。心界不扩大,心音钝,心率80次/min。两肺阴性,腹平软,肝脾未触及。下腹部有一手术疤痕。阴茎细小,尿道下裂,阴囊内未触及睾丸。化验检查:血糖6.7mmol/L,钾3.7mmol/L,钠140mmol/L,氯化物106mmol/L。尿17KS77.6mg/24h,17OH1.9mg/24h,性染色体46××。诊断:C_(21)羟化酶缺乏症。
Patient, male, 25 years old, unmarried, young, short stature. Poor development, dark skin, addicted to salty foods, and often complained of dizziness and fatigue hospital treatment. Physical examination: T36.5 ℃, P80 times / min, BP96 / 64mmHg, height 140cm, weight 45kg. Hands, feet (finger) toe short. Body black skin, especially in the auricle, lips, neck, axillary, belt and hip, the anus is more pronounced around. Both sides of the tongue, gums, oral mucosa also showed black. Normal skull, hair sparse dull, eyebrows, armpit hair, pubic hair are scarce. Sclera without yellow dye. Heart does not expand, blunt heart, heart rate 80 beats / min. Negative lungs, abdominal soft, liver and spleen not touched. The lower abdomen has a surgical scar. Penis small, hypospadias, scrotum did not touch the testicles. Laboratory tests: blood glucose 6.7mmol / L, potassium 3.7mmol / L, sodium 140mmol / L, chloride 106mmol / L. Urine 17KS77.6mg / 24h, 17OH1.9mg / 24h, sex chromosome 46 × ×. Diagnosis: C_ (21) hydroxylase deficiency.